Variant report

Variant	esv3321974
Chromosome Location	chr15:50378285-50380833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50365547..50368039-chr15:50379457..50381521,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370784088	chr15:50378360-50378361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542621026	chr15:50378539-50378540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183611737	chr15:50378559-50378560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188312126	chr15:50378590-50378591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180865137	chr15:50378595-50378596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376089986	chr15:50378628-50378629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186295687	chr15:50378641-50378642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370408068	chr15:50378711-50378712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191264619	chr15:50378798-50378799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372736943	chr15:50378834-50378835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565362440	chr15:50378846-50378847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61728299	chr15:50378939-50378940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56651752	chr15:50378940-50378941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61728830	chr15:50378966-50378967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376570194	chr15:50379035-50379036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370331035	chr15:50379104-50379105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376081444	chr15:50379110-50379111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377764628	chr15:50379111-50379112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370822326	chr15:50379112-50379113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375689827	chr15:50379113-50379114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61728606	chr15:50379129-50379130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61728607	chr15:50379143-50379144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565509208	chr15:50379177-50379178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571208082	chr15:50379188-50379189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571317032	chr15:50379212-50379213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181647350	chr15:50379219-50379220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186899181	chr15:50379231-50379232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573599748	chr15:50379292-50379293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201141861	chr15:50379299-50379300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199520470	chr15:50379300-50379301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573188550	chr15:50379304-50379305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552965496	chr15:50379314-50379315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192285884	chr15:50379323-50379324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12594969	chr15:50379327-50379328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187941170	chr15:50379348-50379349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531023443	chr15:50379483-50379484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370205614	chr15:50379536-50379537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs33936512	chr15:50379537-50379538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58558934	chr15:50379539-50379540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367919418	chr15:50379545-50379546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59176190	chr15:50379552-50379553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34822858	chr15:50379559-50379560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386382952	chr15:50379560-50379561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60398947	chr15:50379561-50379562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536700227	chr15:50379638-50379639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556735064	chr15:50379641-50379642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34934612	chr15:50379681-50379682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8037701	chr15:50379716-50379717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545635787	chr15:50379747-50379748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76136465	chr15:50379751-50379752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50367200-50380600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr15:50367400-50381600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:50368000-50380800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:50376800-50386200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:50377400-50380400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:50377800-50379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50378000-50380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:50378000-50380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:50379800-50381200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:50380400-50380600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:50380400-50381000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:50380400-50381000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:50380600-50381000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:50380600-50381200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:50380800-50383200	Enhancers	Primary neutrophils fromperipheralblood	blood

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